Risk genetic polymorphism and haplotype associated with papillary thyroid cancer and their relation to associated diseases in Slovak population.

BACKGROUND: Risk for developing papillary thyroid carcinoma (PTC), the most common endocrine malignancy, is thought to be mediated by lifestyle, environmental exposures and genetic factors. Recent progress in the genome-wide association studies of thyroid cancer leads to the identification of several genetic variants conferring risk to this malignancy across different ethnicities. METHODS AND RESULTS: We set out to elucidate the impact of selected single nucleotide polymorphisms (SNPs) on papillary thyroid carcinoma risk and to evaluate the interactions of these genetic variants with associated diseases for the first time in the Slovak population. Six SNPs (rs966423, rs2439302, rs965513, rs116909374, rs1537424 and rs944289) were genotyped in 86 patients with PTC and 99 healthy control subjects. The association analysis and multivariable modelling of PTC risk by the genetic factors, supplemented with a rigorous statistical validation, were performed. One of the six SNPs rs966423 (DIRC3, OR=1.51, p=0.03) was significantly associated with PTC. Next two SNPs rs965513 (PTCSC2, OR=1.34) and rs116909374 (MBIP, OR=0.44) showed a suggestive association. Haplotype TTC (SNPs located on chromosome 14q13) showed a suggestive association with PTC (p=0.07, OR=1.55). In the PTC group, significant associations were observed between rs966423 (DIRC3) and ischemic heart diseases (p=0.009), rs965513 (PTCSC2) and diabetes mellitus (p=0.04) and haplotype 14q13 and musculoskeletal diseases. Next three associations rs966423 (DIRC3) and arterial hypertension; rs116909374 (MBIP) and other benign diseases; rs1537424 (MBIP) and disorder lipid metabolism, rs965513 (PTCSC2) and anti-Tg (thyroglobulin antibody) showed suggestive associations. CONCLUSION: These results indicate that germline variants not only predispose to PTC, but may also be related to other risk factors, including associated diseases. However, these associations were only moderate, and further multi-ethnic studies are required to evaluate the usefulness of these germline variants in the clinical stratification of PTC patients (Tab. 8, Ref. 37).

Common gene haplotypes of gelatinases and their tissue inhibitors in abdominal aortic aneurysm.

Abdominal aortic aneurysm (AAA) involves complex dynamic remodeling processes in the aortic wall. Gelatinases (MMP2 and MMP9) and their respective tissue inhibitors (TIMP1 and TIMP2) play a crucial role during extracellular matrix (ECM) turnover in aortic tissue. In this study we characterized associations between the haplotypes of genes encoding gelatinase/inhibitor pairs and pathways involved in AAA, a total of 100 AAA patients and 192 controls were enrolled. For males, a significant decrease in the distribution of the minor G allele of the TIMP2 rs8082025 was observed in AAA patients (p = 0.01, 23.1% controls vs. 13.1% AAA). In addition, in males, the major TIMP2 GA haplotype was associated with AAA (86.9% AAA vs. 76.9% control; p = 0.009, OR = 1.997), whereas the TIMP2 GG haplotype (7.7% AAA vs. 13.9% control) was associated with protection against AAA (p = 0.046, OR = 0.518). The minor GAGC MMP9 haplotype was related to AAA for all study subjects as well as the males only subset (p = 0.011, OR = 2.202 and p = 0.025, OR = 2.156, respectively). Small differences in the distribution of gene haplotypes could be associated with different levels of gene expression and in turn influence gelatinases activity in AAA.

Posterior mediastinotomy as an unordinary method of mediastinal drainage in patient with descending necrotizing mediastinitis: a case report.

The authors present a case report of severe descending necrotizing mediastinitis (DNM) of posterior mediastinum, etiologically of vertebral osteomyelitis treated by the drainage through the posterior mediastinotomy. Mediastinitis caused by vertebral osteomyelitis is very rare. The most important diagnostic and surveillance tool for descending mediastinitis is a CT scan of chest and neck. Every surgical approach to the mediastinum has its advantages and disadvantages, so each patient has to be treated individually and the most suitable type of drainage must be chosen. The posterior mediastinotomy is an unusual alternative of drainage of pre- and paravertebrally localized DNM in posterior mediastinum but it is not recommended as a routine strategy.

Effect of CYP17 and PSA gene polymorphisms on prostate cancer risk and circulating PSA levels in the Slovak population.

Cytochrome P-450c17α (CYP17) and prostate-specific antigen (PSA) genes, which are involved in the androgen metabolism cascade, have been studied as possible candidates for genetic influences on prostate cancer development. Contradictory results prompted us to evaluate the frequencies of polymorphisms in the CYP17 and PSA genes as well as the association between these genetic variants and serum PSA levels in prostate cancer patients and men routinely screened for prostate cancer with PSA in the Slovak male population. The CYP17 and PSA polymorphisms were determined by the PCR-RFLP analysis in 197 Caucasian prostate cancer patients and 256 Caucasian controls. We did not find any association between the CYP17 and PSA genotypes and prostate cancer risk overall, or by grade. Also the total serum PSA levels in the cases with the AG or AA genotype were not significantly higher than in the men with the GG genotype (P > 0.05). Our study did not provide support for the hypothesized relationship between CYP17 and PSA gene polymorphisms and prostate cancer in the Slovak male population.

In vitro assays for the evaluation of drug resistance in tumor cells.

Oncologic diseases are among leading cause of mortality in developed countries. Despite significant progress, the use of standard cytotoxic chemotherapy has reached a therapeutical plateau. Currently, the process of selecting chemotherapy represents a trial and error method neglecting biological individuality of tumor and its bearer. The improvement of treatment results is expected from ex vivo drug sensitivity testing which may allow to choose the most effective drug for individual patient and to exclude agents to which the tumor cells exert resistance. New techniques and rapidly increasing knowledge about the molecular basis of malignant diseases provide important opportunities for the future of chemotherapy. This paper reviews current methods used to test the resistance of tumor cells to a panel of anticancer agents in vitro. In addition, we focused on the in vitro MTT assay which represents one of major technique for testing of tumor cell resistance to anticancer agents.

[Cyst of Echinococcus etiology localised in the spleen]. / Cysta echinokokovej etiológie lokalizovaná v slezine.

Cystic form in the spleen was diagnosed accidentally in a 44 years old patient during ultrasonography of the abdomen. It reached 6.0 cms in diameter. The mass was localised superficially, closely beneath the capsule of the spleen. The diagnose was confirmed serologically. Because of the localisation and the size of the cyst, the surgical approach - splenectomy - was indicated and performed.

miR-21, miR-221 and miR-150 Are Deregulated in Peripheral Blood of Patients with Colorectal Cancer.

The Aim of this study was to evaluate the expression levels of miR-21, miR-221, miR-150, let-7a and miR-126a in peripheral blood of 71 patients with colorectal cancer and 80 matched healthy control individuals. We determined expression levels of these microRNAs in peripheral blood samples and used small nucleolar RNA (RNU48) as an internal control. Expression levels of miR-21 (p<0.0001) and miR-221 (p<0.0001) were significantly higher, whereas expression levels of miR-150 (p=0.0054) were significantly lower in the blood samples of patients with colorectal cancer in comparison to the control group. The combination of these three microRNAs enabled us to distinguish patients with colorectal cancer from healthy donors with a sensitivity of 80% and specificity of 74% (p<0.0001). We did not observe any correlation of the studied microRNAs with clinicopathological features of colorectal cancer, indicating that expression of these microRNAs is more likely related to the host response to the tumour than the tumour itself.

Successful recanalization of acute superior mesenteric artery thromboembolic occlusion by a combination of intraarterial thrombolysis and mechanical thrombectomy with a carotid filter.

Acute superior mesenteric artery (SMA) occlusion is a life-threatening disease, and acute intestinal ischemia develops from the sudden decrease in perfusion to the intestines. The key to saving the patient's life is early diagnosis, and prompt revascularization of the SMA can prevent intestinal infarction and decrease the risk of bowel segment necrosis. Computed tomographic angiography may be useful for rapid diagnosis. We report recanalization of an SMA occlusion in an 80-year-old man with a combination of intraarterial thrombolysis and mechanical thrombectomy with a carotid filter.

Broken esophageal stent successfully treated by interventional radiology technique.

Esophageal stent fractures occur quite rarely. A 61-year-old male patient was previously treated for rupture of benign stenosis, occurring after dilatation, by implanting an esophageal stent. However, a year after implantation, the patient suffered from dysphagia caused by the broken esophageal stent. He was treated with the interventional radiology technique, whereby a second implantation of the esophageal stent was carried out quite successfully.